Canonical Allele Identifier: CA394728315

Gene: CIITA

Linked Data

• dbSNP Id: rs1418088482
• gnomAD v2: 16-10995984-T-A
• gnomAD v4: 16-10902127-T-A
• MyVariant Identifiers: chr16:g.10995984T>A (hg19) ; chr16:g.10902127T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902127T>A , CM000678.2:g.10902127T>A	GRCh38
NC_000016.9:g.10995984T>A , CM000678.1:g.10995984T>A	GRCh37
NC_000016.8:g.10903485T>A	NCBI36
NG_009628.1:g.29930T>A , LRG_49:g.29930T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695879.1:n.596T>A
ENST00000324288.14:c.571T>A MANE Select	ENSP00000316328.8:p.Phe191Ile
ENST00000324288.12:c.571T>A	ENSP00000316328.8:p.Phe191Ile
ENST00000381835.9:c.482-531T>A	ENSP00000371257.5:n.482-531T>A
ENST00000537380.1:n.571T>A
ENST00000570546.5:n.692T>A
ENST00000571186.5:c.*292T>A	ENSP00000459829.1:n.*292T>A
ENST00000573309.5:n.600-531T>A
ENST00000576601.1:c.499T>A	ENSP00000459608.1:p.Phe167Ile
ENST00000611587.4:c.485-531T>A	ENSP00000483487.1:n.485-531T>A
ENST00000618207.4:c.571T>A	ENSP00000484761.1:p.Phe191Ile
ENST00000618327.4:c.574T>A	ENSP00000485010.1:p.Phe192Ile
NM_000246.3:c.571T>A , LRG_49t1:c.571T>A	NP_000237.2:p.Phe191Ile
NM_001286402.1:c.574T>A	NP_001273331.1:p.Phe192Ile
NM_001286403.1:c.482-531T>A	NP_001273332.1:n.482-531T>A
NR_104444.1:n.704T>A
XM_006720880.2:c.868T>A	XP_006720943.2:p.Phe290Ile
XM_011522484.1:c.868T>A	XP_011520786.1:p.Phe290Ile
XM_011522485.1:c.868T>A	XP_011520787.1:p.Phe290Ile
XM_011522486.1:c.868T>A	XP_011520788.1:p.Phe290Ile
XM_011522487.1:c.680-531T>A	XP_011520789.1:n.680-531T>A
XM_011522488.1:c.619T>A	XP_011520790.1:p.Phe207Ile
XM_011522489.1:c.677-531T>A	XP_011520791.1:n.677-531T>A
XM_011522490.1:c.616T>A	XP_011520792.1:p.Phe206Ile
XM_011522491.1:c.868T>A	XP_011520793.1:p.Phe290Ile
XM_011522492.1:c.574T>A	XP_011520794.1:p.Phe192Ile
XM_011522493.1:c.571T>A	XP_011520795.1:p.Phe191Ile
XM_011522494.1:c.502T>A	XP_011520796.1:p.Phe168Ile
XM_011522495.1:c.485-531T>A	XP_011520797.1:n.485-531T>A
XM_011522496.1:c.482-531T>A	XP_011520798.1:n.482-531T>A
XR_932841.1:n.883T>A
XR_932842.1:n.883T>A
XR_932843.1:n.883T>A
XR_932846.1:n.883T>A
XR_932847.1:n.883T>A
XR_932848.1:n.632-531T>A
XM_006720880.3:c.868T>A	XP_006720943.2:p.Phe290Ile
XM_011522484.3:c.868T>A	XP_011520786.1:p.Phe290Ile
XM_011522485.2:c.868T>A	XP_011520787.1:p.Phe290Ile
XM_011522486.2:c.868T>A	XP_011520788.1:p.Phe290Ile
XM_011522487.2:c.680-531T>A	XP_011520789.1:n.680-531T>A
XM_011522488.2:c.619T>A	XP_011520790.1:p.Phe207Ile
XM_011522489.2:c.677-531T>A	XP_011520791.1:n.677-531T>A
XM_011522490.2:c.616T>A	XP_011520792.1:p.Phe206Ile
XM_011522491.2:c.868T>A	XP_011520793.1:p.Phe290Ile
XM_011522492.2:c.574T>A	XP_011520794.1:p.Phe192Ile
XM_011522493.2:c.571T>A	XP_011520795.1:p.Phe191Ile
XM_011522494.2:c.502T>A	XP_011520796.1:p.Phe168Ile
XM_011522495.2:c.485-531T>A	XP_011520797.1:n.485-531T>A
XM_011522496.2:c.482-531T>A	XP_011520798.1:n.482-531T>A
XM_024450280.1:c.814T>A	XP_024306048.1:p.Phe272Ile
XM_024450281.1:c.725-531T>A	XP_024306049.1:n.725-531T>A
XR_001751904.1:n.887T>A
XR_932841.3:n.885T>A
XR_932842.2:n.885T>A
XR_932846.3:n.887T>A
XR_932847.3:n.887T>A
NM_001286403.2:c.482-531T>A	NP_001273332.1:n.482-531T>A
NR_104444.2:n.700T>A
NM_000246.4:c.571T>A MANE Select	NP_000237.2:p.Phe191Ile
NM_001379330.1:c.485-531T>A	NP_001366259.1:n.485-531T>A
NM_001379331.1:c.482-531T>A	NP_001366260.1:n.482-531T>A
NM_001379332.1:c.574T>A	NP_001366261.1:p.Phe192Ile
NM_001379333.1:c.571T>A	NP_001366262.1:p.Phe191Ile
NM_001379334.1:c.502T>A	NP_001366263.1:p.Phe168Ile